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age with hirsutism, acne, primary amenorrhea, deepening of voice, and short
stature, whereas boys present with short stature, premature appearance of facial
hair, and testicular enlargement due to testicular adrenal rest tumors (TART).- What are the manifestations of non-classical CAH?
Females with non-classical CAH (NCCAH) due to 21α-hydroxylase defi ciency
may manifest with premature pubarche during childhood or with hirsutism (60 %),
oligomenorrhoea (54 %), and cystic acne (33 %) during peripubertal period or with
infertility in adulthood. However, many women with NCCAH are asymptomatic.
Males with NCCAH may manifest with premature pubarche during childhood
and, rarely, with asymmetrical testicular enlargement due to TART in adults.- What are the differences between NCCAH and polycystic ovarian disease?
The differences between NCCAH and polycystic ovarian disease are summa-
rized in the table given below.Parameters NCCAH PCOD
Prevalence 1 in 1,000 1 in 10–20
Family history Usually present May be present
Menstrual irregularity 54 % 80 %
Hirsutism 60 % 50–60 %
Cystic acne More common Less common
Phenotype Lean Commonly obese
Features of insulin resistance Absent Commonly present
Clitoromegaly Uncommon Rare
Stimulated 17(OH)P 10–100 ng/ml <10 ng/ml
Ultrasonography of ovaries Usually normal >12 follicles of size 2–9 mm or ovarian
volume >10 ml- How to establish a diagnosis of CAH due to 21α-hydroxylase defi ciency?
Estimation of serum 17(OH)P is recommended for the diagnosis of CAH due
to 21α-hydroxylase defi ciency. A baseline serum 17(OH)P of >100 ng/ml con-
fi rms the diagnosis of classical CAH due to 21α-hydroxylase defi ciency and
does not require ACTH stimulation test. However, ACTH-stimulated 17(OH)P
should be performed in those with a baseline serum 17(OH)P <100 ng/ml. A
stimulated serum 17(OH)P >100 ng/ml confi rms the diagnosis of classical
CAH, a value between 10 and 100 ng/ml establishes the diagnosis of NCCAH,
and a value <10 ng/ml suggests that the individual is either carrier or is not
affected. Once the diagnosis of classical CAH is confi rmed, estimation of
plasma renin activity helps to differentiate simple virilizing and salt-wasting
forms of CAH. Further, estimation of plasma renin activity also helps in moni-
toring of a child on therapy.10 Congenital Adrenal Hyperplasia